Abstract |
Floating Harbor syndrome was diagnosed in a 9 years old girl on the basis of short stature, delayed bone age, mild mental retardation, speech problems and specific craniofacial features. A detailed phenotype description is given and evaluated together with 18 other published case reports according to the concept of the Munich Dysmorphology Database (Stengel-Rutkowski et al., 1996) with the aim to delineate the spectrum of clinical and anthropological features.
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Authors | A T Midro, B Olchowik, M Rogowska, E Hubert, E Hassman-Poznańska, A Papasz, S Szulc, A Wiśniewski |
Journal | Annales de genetique
(Ann Genet)
Vol. 40
Issue 3
Pg. 133-8
( 1997)
ISSN: 0003-3995 [Print] Netherlands |
PMID | 9401100
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Topics |
- Abnormalities, Multiple
(genetics)
- Age Determination by Skeleton
- Child
- Craniofacial Abnormalities
(genetics)
- Female
- Growth Disorders
(genetics)
- Humans
- Intellectual Disability
(genetics)
- Phenotype
- Syndrome
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